Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
International Society for Gastrointestinal Hereditary Tumours |
RCV000203618 | SCV000107568 | likely benign | Lynch syndrome I | 2015-11-24 | reviewed by expert panel | research | |
Invitae | RCV000076539 | SCV000166276 | uncertain significance | Hereditary nonpolyposis colorectal neoplasms | 2019-12-02 | criteria provided, single submitter | clinical testing | This sequence change replaces threonine with arginine at codon 905 of the MSH2 protein (p.Thr905Arg). The threonine residue is weakly conserved and there is a moderate physicochemical difference between threonine and arginine. This variant is present in population databases (rs267608022, ExAC 0.003%). This variant has been reported in a family affected with colorectal cancer (PMID: 8880570). ClinVar contains an entry for this variant (Variation ID: 91037). Experimental studies have shown that this missense change does not significantly impact MSH2 activity (PMID: 9774676, 12124176). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. |
Ambry Genetics | RCV000129528 | SCV000184304 | likely benign | Hereditary cancer-predisposing syndrome | 2020-01-06 | criteria provided, single submitter | clinical testing | In silico models in agreement (benign);Other data supporting benign classification |
Gene |
RCV000424772 | SCV000518413 | likely benign | not specified | 2017-08-10 | criteria provided, single submitter | clinical testing | This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. |
Mendelics | RCV000203618 | SCV001135763 | benign | Lynch syndrome I | 2019-05-28 | criteria provided, single submitter | clinical testing | |
Color | RCV000129528 | SCV001357010 | uncertain significance | Hereditary cancer-predisposing syndrome | 2020-01-17 | criteria provided, single submitter | clinical testing |